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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CHRFAM7A
CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion
Chromosome 15 · 15q13.2
NCBI Gene: 89832Ensembl: ENSG00000166664.15HGNC: HGNC:15781UniProt: A0A0A6YYA8
54PubMed Papers
20Diseases
15Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acetylcholine-gated monoatomic cation-selective channel activityneurotransmitter receptor activitycalcium ion transportsynaptic transmission, cholinergicAlzheimer diseaseneurodegenerative diseaseIncreased total eosinophil countAbnormality of limbs
✦AI Summary

CHR15 is a human-specific fusion gene that functions as a dominant negative regulator of the α7 nicotinic acetylcholine receptor (α7 nAChR) 1. The gene produces the dupα7 protein, which assembles with native α7 subunits to form heteromeric receptors with reduced functional activity compared to homopentameric α7 receptors 2. CHR15/α7 nAChR functions as a hypomorphic receptor with mitigated Ca2+ influx and prolonged channel closed states, shifting Ca2+ dynamics from extracellular to endoplasmic reticulum sources 3. This altered Ca2+ signaling activates the small GTPase Rac1, reorganizing the actin cytoskeleton and affecting cellular adhesion, motility, and phagocytosis 3. The gene is highly expressed in human leukocytes and plays important roles in inflammatory regulation 4. CHR15 has complex disease associations, showing protective effects in renal fibrosis by inhibiting TGF-β1/Smad2/3 signaling pathways 5, while being associated with more severe osteoarthritis and amplified pain behaviors 6. The absence of CHR15 in animal models may contribute to the translational gap in α7 nAChR drug development, as therapeutic effects observed in preclinical studies often fail in human trials 7.

Sources cited
1
CHRFAM7A is a human-specific fusion gene functioning as dominant negative regulator of α7 nAChR
PMID: 25701707
2
dupα7 protein assembles with native α7 subunits to form heteromeric receptors with reduced activity
PMID: 35408823
3
CHRFAM7A/α7 nAChR acts as hypomorphic receptor with altered Ca2+ dynamics and actin cytoskeleton effects
PMID: 38569318
4
CHRFAM7A is highly expressed in human leukocytes and involved in inflammatory regulation
PMID: 25473097
5
CHRFAM7A shows protective effects in renal fibrosis through TGF-β1/Smad2/3 pathway inhibition
PMID: 36479618
6
CHRFAM7A is associated with more severe osteoarthritis and amplified pain behaviors
PMID: 36627169
7
Absence of CHRFAM7A in animal models may contribute to translational gap in drug development
PMID: 38200291
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
Abnormality of limbsOpen Targets
0.31Weak
Increased total eosinophil countOpen Targets
0.31Weak
schizophreniaOpen Targets
0.31Weak
male reproductive organ cancerOpen Targets
0.31Weak
preeclampsiaOpen Targets
0.28Weak
kidney diseaseOpen Targets
0.27Weak
Parkinson diseaseOpen Targets
0.23Weak
lysosomal storage diseaseOpen Targets
0.21Weak
multiple sclerosisOpen Targets
0.21Weak
15q11q13 microduplication syndromeOpen Targets
0.12Weak
chromosome 15q13.3 microdeletion syndromeOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.11Weak
asthmaOpen Targets
0.11Weak
anxiety disorderOpen Targets
0.10Suggestive
nicotine dependenceOpen Targets
0.10Suggestive
depressive disorderOpen Targets
0.10Suggestive
post-traumatic stress disorderOpen Targets
0.09Suggestive
smoking cessationOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets15
ABT-107Phase I
Neuronal acetylcholine receptor protein alpha-7 subunit agonist
attention deficit hyperactivity disorder
ABT-126Phase II
Neuronal acetylcholine receptor protein alpha-7 subunit agonist
Alzheimer disease
APN1125Phase I/II
Neuronal acetylcholine receptor protein alpha-7 subunit partial agonist
schizophrenia
AQW051Phase II
Neuronal acetylcholine receptor protein alpha-7 subunit partial agonist
Alzheimer disease
ASM-024Phase II
Muscarinic acetylcholine receptor M1 antagonist
asthma
AVL-3288Phase I
Neuronal acetylcholine receptor protein alpha-7 subunit positive allosteric modulator
Cognitive impairment
AZD0328Phase II
Neuronal acetylcholine receptor protein alpha-7 subunit agonist
Alzheimer disease
BNC-210Phase II
Neuronal acetylcholine receptor protein alpha-7 subunit negative allosteric modulator
anxiety disorder
BRADANICLINEPhase II
Neuronal acetylcholine receptor protein alpha-7 subunit agonist
ENCENICLINEPhase III
Neuronal acetylcholine receptor protein alpha-7 subunit partial agonist
Alzheimer disease
FACINICLINE HYDROCHLORIDEPhase II
Serotonin 3 (5-HT3) receptor antagonist
schizophrenia
GTS-21Phase II
Neuronal acetylcholine receptor protein alpha-7 subunit agonist
Parkinson disease
JNJ-39393406Phase II
Neuronal acetylcholine receptor protein alpha-7 subunit positive allosteric modulator
depressive disorder
ND0801Phase I/II
Neuronal acetylcholine receptor protein alpha-7 subunit agonist
attention deficit hyperactivity disorder
TC-6987Phase II
Neuronal acetylcholine receptor protein alpha-7 subunit agonist
asthma
Related Genes
OTUD7AProtein interaction96%CHRNA1Protein interaction70%CHRNA7Protein interaction60%CHRNA9Shared pathway57%CHRNEShared pathway57%CHRNGShared pathway54%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
25%
Brain
9%
Lung
4%
Liver
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CHRFAM7AOTUD7ACHRNA1CHRNA7CHRNA9CHRNECHRNG
PROTEIN STRUCTURE
Preparing viewer…
PDB8P1H · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.76Intermediate
Observed/Expected LoF0.27 [0.12–0.70]
RankingsWhere CHRFAM7A stands among ~20K protein-coding genes
  • #8,293of 20,598
    Most Researched54
  • #5,292of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedCHRFAM7A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CHRFAM7A diversifies human immune adaption through Ca
PMID: 38569318
EBioMedicine · 2024
1.00
2
The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function.
PMID: 25701707
Neuropharmacology · 2015
0.90
3
Human-specific duplicate CHRFAM7A gene is associated with more severe osteoarthritis and amplifies pain behaviours.
PMID: 36627169
Ann Rheum Dis · 2023
0.80
4
Translational implications of CHRFAM7A, an elusive human-restricted fusion gene.
PMID: 38200291
Mol Psychiatry · 2024
0.70
5
CHRFAM7A, a human-specific and partially duplicated α7-nicotinic acetylcholine receptor gene with the potential to specify a human-specific inflammatory response to injury.
PMID: 25473097
J Leukoc Biol · 2015
0.60